| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 20 (54.2%) |
1288291 |
Intrathoracic extramedullary hematopoietic tumor in hemoglobin H disease. Wu JH, Shih LY, Kuo TT, Lan RS. Am J Hematol. 1992;41(4):285-8. |
| Jaundice Anemia Hyperbilirubinemia | ||
| Adult Biopsy Blood Cells Chest Differential Diagnosis Hepatitis, Viral, Human Homo sapiens Icterus Male Radiography, Thoracic Thoracic Neoplasms X-Ray Computed Tomography alpha-Thalassemia | ||
| 22 (53.6%) |
10861818 |
beta-thalassemia intermedia caused by compound heterozygosity for Hb Malay (beta codon 19 AAC-->AGC; asn-->Ser) and codons 41/42 (-CTTT) beta(0)-thalassemia mutation. Ma SK, Chow EY, Chan AY, Kung NN, Waye JS, Chan LC, Chui DH. Am J Hematol. 2000;64(3):206-9. |
| Cholelithiasis Splenomegaly Anemia | ||
| c|SUB|AAC|CODON19|AGC p|SUB|N||S rs33972047 | ||
| Abnormal Hemoglobins Adult Asians Females Genotype Globin Heterozygote Homo sapiens Middle Aged Point Mutation Thalassemia beta Thalassemia | ||
| 23 (50.9%) |
7395858 |
Homozygous hemoglobin E mimics beta-thalassemia minor without anemia or hemolysis: hematologic, functional, and biosynthetic studies of first North American cases. Fairbanks VF, Oliveros R, Brandabur JH, Willis RR, Fiester RF. Am J Hematol. 1980;8(1):109-21. |
| Pallor Splenomegaly Hemolytic anemia | ||
| rs33950507 | ||
| Abnormal Hemoglobins Adult Erythrocyte Aging Females Globin Hemoglobin E Homo sapiens Homozygote Male North America Thailand Thalassemia Vietnam | ||
| 24 (50.0%) |
29299089 |
Hamartoma of the spleen (splenoma) with calcifications in a child with beta-thalassemia: A case report. Giambelluca D, Picone D, Re GL, Pappalardo S, Romeo P. J Radiol Case Rep. 2017;11(5):7-12. |
| Splenomegaly Iron deficiency anemia | ||
| Calcinosis Females Hamartoma Homo sapiens Imaging, Three-Dimensional Splenectomy Splenic Diseases X-Ray Computed Tomography beta Thalassemia | ||
| 24 (50.0%) |
15641537 |
[The rare combination of liver echinococcosis and beta-thalassemia]. Donov M, Krustev N. Khirurgiia (Sofiia). 2003;59(4):40-3. |
| Splenomegaly Anemia | ||
| Adult Echinococcosis, Hepatic Homo sapiens Male beta Thalassemia | ||
| 24 (50.0%) |
11300352 |
A Korean family with a dominantly inherited beta-thalassemia due to Hb Durham-N.C./Brescia. Kim JY, Park SS, Yang SH, Joo SI, Lee YJ, Ra EK, Shin S, Kim EC, Cho HI. Hemoglobin. 2001;25(1):79-89. |
| Splenomegaly Anemia | ||
| rs36015961 | ||
| Abnormal Hemoglobins Adult Amino Acid Substitution DNA Mutational Analysis Females Genes, Dominant Globin Haplotypes Heterozygote Homo sapiens Korea Male Middle Aged Missense Mutation Phenotype Protein Biosynthesis RNA, Messenger Splenomegaly beta Thalassemia | ||
| 24 (50.0%) |
9650475 |
Adrenal extramedullary hematopoietic tumor in a patient with beta-thalassemia. Chuang CK, Chu SH, Fang JT, Wu JH. J Formos Med Assoc. 1998;97(6):431-3. |
| Splenomegaly Anemia | ||
| Adrenal Gland Neoplasms Adult Females Hematopoiesis Homo sapiens beta Thalassemia | ||
| 24 (50.0%) |
9629496 |
An alpha-thalassemic hemoglobinopathy: homozygosity for the HB Agrinio alpha 2-globin chain variant. Traeger-Synodinos J, Metaxotou-Mavromati A, Kanavakis E, Vrettou C, Papassotiriou I, Michael T, Kattamis C. Hemoglobin. 1998;22(3):209-15. |
| Splenomegaly Anemia | ||
| c|SUB|CTG|CODON29|CCG c|SUB|T|29|C p|SUB|L||P rs41341344 | ||
| Abnormal Hemoglobins Genetic Carrier Screening Genotype Globin Homo sapiens Homozygote Infant Male Point Mutation alpha-Thalassemia | ||
| 24 (50.0%) |
8037185 |
Beta-thalassemia alleles and unstable hemoglobin types among Russian pediatric patients. Curuk MA, Molchanova TP, Postnikov YuV , Pobedimskaya DD, Liang R, Baysal E, Kolodey S, Smetanina NS, Tokarev YuN , Rumyantsev AG, et al.. Am J Hematol. 1994;46(4):329-32. |
| Splenomegaly Anemia | ||
| c|SUB|CTG|CODON114|CCG p|SUB|L||P rs34843844 rs35323748 rs36015961 | ||
| Alleles Amino Acid Sequence Child Child, Preschool Chromosome Mapping Drug Stability Females Hemoglobin Heterozygote Homo sapiens Infant Male Molecular Sequence Data Mutation beta Thalassemia | ||
| 24 (50.0%) |
7693620 |
Hb Hradec Kralove (Hb HK) or alpha 2 beta 2 115(G17)Ala-->Asp, a severely unstable hemoglobin variant resulting in a dominant beta-thalassemia trait in a Czech family. Divoky V, Svobodova M, Indrak K, Chrobak L, Molchanova TP, Huisman TH. Hemoglobin. 1993;17(4):319-28. |
| Splenomegaly Anemia | ||
| c|SUB|GCC|115|GAC p|SUB|A|115|D p|SUB|A||D rs35485099 | ||
| Abnormal Hemoglobins Adult Base Sequence Child, Preschool Czech Republic DNA Mutational Analysis Females Fetal Hemoglobin Genes, Dominant Globin Heterozygote Homo sapiens Molecular Sequence Data Point Mutation beta Thalassemia |
Total: 21
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000924 | Abnormality of the skeletal system | Very frequent (99-80%) |
| HP:0000980 | Pallor | Very frequent (99-80%) |
| HP:0001744 | Splenomegaly | Very frequent (99-80%) |
| HP:0001903 | Anemia | Very frequent (99-80%) |
| HP:0001935 | Microcytic anemia | Very frequent (99-80%) |
| HP:0011902 | Abnormal hemoglobin | Very frequent (99-80%) |
| HP:0000044 | Hypogonadotrophic hypogonadism | Frequent (79-30%) |
| HP:0000737 | Irritability | Frequent (79-30%) |
| HP:0000929 | Abnormal skull morphology | Frequent (79-30%) |
| HP:0001324 | Muscle weakness | Frequent (79-30%) |
| HP:0002093 | Respiratory insufficiency | Frequent (79-30%) |
| HP:0002240 | Hepatomegaly | Frequent (79-30%) |
| HP:0004349 | Reduced bone mineral density | Frequent (79-30%) |
| HP:0004370 | Abnormality of temperature regulation | Frequent (79-30%) |
| HP:0011031 | Abnormality of iron homeostasis | Frequent (79-30%) |
| HP:0001081 | Cholelithiasis | Occasional (29-5%) |
| HP:0001639 | Hypertrophic cardiomyopathy | Occasional (29-5%) |
| HP:0001873 | Thrombocytopenia | Occasional (29-5%) |
| HP:0004936 | Venous thrombosis | Occasional (29-5%) |
| HP:0012115 | Hepatitis | Occasional (29-5%) |
| HP:0200042 | Skin ulcer | Occasional (29-5%) |
Total: 111
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001903 | Anemia | 27 |
| HP:0001978 | Extramedullary hematopoiesis | 24 |
| HP:0002176 | Spinal cord compression | 10 |
| HP:0000822 | Hypertension | 5 |
| HP:0001744 | Splenomegaly | 5 |
| HP:0001945 | Fever | 5 |
| HP:0000939 | Osteoporosis | 4 |
| HP:0001878 | Hemolytic anemia | 4 |
| HP:0001891 | Iron deficiency anemia | 4 |
| HP:0011902 | Abnormal hemoglobin | 4 |
| HP:0000952 | Jaundice | 3 |
| HP:0001907 | Thromboembolism | 3 |
| HP:0001931 | Hypochromic anemia | 3 |
| HP:0001971 | Hypersplenism | 3 |
| HP:0002027 | Abdominal pain | 3 |
| HP:0025615 | Abscess | 3 |
| HP:0032231 | Hypochromia | 3 |
| HP:0000124 | Renal tubular dysfunction | 2 |
| HP:0000819 | Diabetes mellitus | 2 |
| HP:0000821 | Hypothyroidism | 2 |
| HP:0000829 | Hypoparathyroidism | 2 |
| HP:0001082 | Cholecystitis | 2 |
| HP:0001635 | Congestive heart failure | 2 |
| HP:0001746 | Asplenia | 2 |
| HP:0001873 | Thrombocytopenia | 2 |
| HP:0002090 | Pneumonia | 2 |
| HP:0002099 | Asthma | 2 |
| HP:0002385 | Paraparesis | 2 |
| HP:0002576 | Intussusception | 2 |
| HP:0002754 | Osteomyelitis | 2 |
| HP:0010550 | Paraplegia | 2 |
| HP:0020082 | Heinz bodies | 2 |
| HP:0100806 | Sepsis | 2 |
| HP:0200123 | Chronic hepatitis | 2 |
| HP:0000093 | Proteinuria | 1 |
| HP:0000121 | Nephrocalcinosis | 1 |
| HP:0000135 | Hypogonadism | 1 |
| HP:0000138 | Ovarian cyst | 1 |
| HP:0000505 | Visual impairment | 1 |
| HP:0000518 | Cataract | 1 |
| HP:0000529 | Progressive visual loss | 1 |
| HP:0000717 | Autism | 1 |
| HP:0000771 | Gynecomastia | 1 |
| HP:0000789 | Infertility | 1 |
| HP:0000824 | Growth hormone deficiency | 1 |
| HP:0001250 | Seizures | 1 |
| HP:0001269 | Hemiparesis | 1 |
| HP:0001288 | Gait disturbance | 1 |
| HP:0001297 | Stroke | 1 |
| HP:0001298 | Encephalopathy | 1 |
| HP:0001370 | Rheumatoid arthritis | 1 |
| HP:0001394 | Cirrhosis | 1 |
| HP:0001409 | Portal hypertension | 1 |
| HP:0001433 | Hepatosplenomegaly | 1 |
| HP:0001638 | Cardiomyopathy | 1 |
| HP:0001658 | Myocardial infarction | 1 |
| HP:0001701 | Pericarditis | 1 |
| HP:0001876 | Pancytopenia | 1 |
| HP:0001889 | Megaloblastic anemia | 1 |
| HP:0001894 | Thrombocytosis | 1 |
| HP:0001900 | Increased hemoglobin | 1 |
| HP:0001923 | Reticulocytosis | 1 |
| HP:0001927 | Acanthocytosis | 1 |
| HP:0001935 | Microcytic anemia | 1 |
| HP:0002014 | Diarrhea | 1 |
| HP:0002098 | Respiratory distress | 1 |
| HP:0002140 | Ischemic stroke | 1 |
| HP:0002150 | Hypercalciuria | 1 |
| HP:0002155 | Hypertriglyceridemia | 1 |
| HP:0002170 | Intracranial hemorrhage | 1 |
| HP:0002204 | Pulmonary embolism | 1 |
| HP:0002273 | Tetraparesis | 1 |
| HP:0002313 | Spastic paraparesis | 1 |
| HP:0002315 | Headache | 1 |
| HP:0002326 | Transient ischemic attack | 1 |
| HP:0002488 | Acute leukemia | 1 |
| HP:0002617 | Dilatation | 1 |
| HP:0002664 | Neoplasm | 1 |
| HP:0002716 | Lymphadenopathy | 1 |
| HP:0002835 | Aspiration | 1 |
| HP:0002897 | Parathyroid adenoma | 1 |
| HP:0002917 | Hypomagnesemia | 1 |
| HP:0003040 | Arthropathy | 1 |
| HP:0003076 | Glycosuria | 1 |
| HP:0004387 | Enterocolitis | 1 |
| HP:0004447 | Poikilocytosis | 1 |
| HP:0004840 | Hypochromic microcytic anemia | 1 |
| HP:0004870 | Chronic hemolytic anemia | 1 |
| HP:0004942 | Aortic aneurysm | 1 |
| HP:0005567 | Renal magnesium wasting | 1 |
| HP:0006559 | Hepatic calcification | 1 |
| HP:0006562 | Viral hepatitis | 1 |
| HP:0010566 | Hamartoma | 1 |
| HP:0010934 | Xanthinuria | 1 |
| HP:0010980 | Hyperlipoproteinemia | 1 |
| HP:0011273 | Anisocytosis | 1 |
| HP:0011672 | Cardiac myxoma | 1 |
| HP:0012089 | Arteritis | 1 |
| HP:0012115 | Hepatitis | 1 |
| HP:0012151 | Hemothorax | 1 |
| HP:0012215 | Testicular microlithiasis | 1 |
| HP:0012852 | Hepatic bridging fibrosis | 1 |
| HP:0025143 | Chills | 1 |
| HP:0030248 | Mesenteric venous thrombosis | 1 |
| HP:0030731 | Carcinoma | 1 |
| HP:0032155 | Abdominal cramps | 1 |
| HP:0100008 | Schwannoma | 1 |
| HP:0100646 | Thyroiditis | 1 |
| HP:0100724 | Hypercoagulability | 1 |
| HP:0100739 | Bulimia | 1 |
| HP:0100753 | Schizophrenia | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|